November 25, 2014

Elyria
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Rare condition impairs man’s movement, but others think he’s drunk

ELYRIA — John Mugford takes each day one step at a time, but lately, he’s found that it is easier said than done.

Once a standout soccer star at Elyria High School, now the 40-year-old cannot catch a ball or even walk in a straight line. Many people assume Mugford’s lack of coordination and slurred speech are due to heavy alcohol or drug use.

Mugford was diagnosed with spinocerebellar ataxia type 2, a genetic form of the rare degenerative dysfunction ataxia that affects muscle movement.

Sue Hagen, patient service director of the National Ataxia Foundation, said the disease can make some appear intoxicated and is considered a “rare disease” by the National Institute of Health.

“To be considered rare, less than 150,000 people have it in the U.S.,” she said.

Ataxia is a degenerative disease, becoming worse over time. Hagen said there are no cures or preventive treatments, and drug companies are reluctant to consider studies because ataxia is not prevalent in the U.S.

Mugford’s symptoms started when he was 33. A former athlete, Mugford was playing basketball when he couldn’t dribble the ball. When he threw the basketball, it went over the basket.

He went to the doctor for an MRI and was diagnosed with ataxia.

Mugford wasn’t shocked — he knew there was a 50 percent chance he had ataxia. His father, who is now deceased, had ataxia. His 44-year-old brother, Rod, has it, too.

“That’s life. We all have problems. We just have to deal with it,” said Mugford.

Mugford isn’t happy about the public’s perception of him, however.

Mugford recalled a trip with his 9-year-old daughter to Circle K. The two were buying Slushies when a man got out of line to call police, believing that Mugford was drunk.

Mugford’s girlfriend, Michelle Ryan, said that when she saw Mugford at a class reunion, before the two began dating, she remembered thinking, “What happened to John?”

She doesn’t blame the community for their opinions, but she sees how discouraged Mugford can become.

“The waitress might make a comment about how much he’s had to drink. … He’s very friendly, and I think that doesn’t help him at all because people just think he’s a big friendly drunk,” she said.

Ryan said Mugford can’t enjoy the things he once used to love, like sports.

In 1988, he was the only Elyria player chosen for All-Erie Shore Conference’s soccer first team. A four-year letterman and four-time all-conference selection, Mugford was named “best offensive player” on Elyria High School’s soccer team, finishing his career with 99 goals.

He received the Ray Wilson Memorial Award, presented annually to the top athlete and scholar, as an eighth-grade student at Northwood Middle School. Mugford, who carried a 3.2 grade average, participated in baseball, football and track, finishing undefeated in the mile run and compiling a best time of five minutes and 21 seconds.

After graduating in 1990, Mugford went to Ashland University with a scholarship to play soccer.

“He was really such a great athlete,” Ryan said. “That’s the hard part, because now he can’t catch a ball.”

Although long walks can tire Mugford, he still makes weekly trips to the Powerhouse Gym in downtown Elyria. Mugford’s brother, Paul Mugford, said he believes his brother is trying to stay healthy until the disease worsens.

“It’s a disease that doesn’t get better. It gets progressively worse. … It’s going to get to the point where he’s wheelchair bound,” he said.

Paul Mugford watched as ataxia overtook his father’s life until his death from lung cancer in his late 60s.

His father worked as an optician at Union Eye Care Center and had enough coordination to take measurements and adjust eyeglasses. But Paul Mugford described his father as a man who “always had a chip on his shoulder” — he couldn’t run at full pace and had eventually become bed-ridden.

“I didn’t feel sorry for my father, but my father didn’t have what a lot of people had his age. He couldn’t walk or run,” he said.

Paul Mugford, who watched his brothers’ ataxia continually worsen, said he was always worried about being diagnosed with ataxia as well. He said, although John Mugford doesn’t talk about his disease, he knows that he worries about it and about his 9-year-old daughter, who is too young to be tested.

“When I talk to him, he kind of avoids the discussion. … I think he’s doing the best that he can, but I think he needs a counselor or someone to talk to about it,” he said.

Hagen said there have been several studies to find treatments for ataxia, founded by the National Ataxia Foundation.

Some clinical trials found that Chantix, a medicine to help people quit smoking, helped some with ataxia who had balance problems.

The foundation is currently looking at several lithium studies, which may be promising.

“Although it is a neurological movement disorder that has symptoms that are similar to the symptoms in Parkinson’s disease or ALS or multiple sclerosis or muscular dystrophy, it is a unique disease that requires its own trained clinicians and researchers to specifically treat patients with ataxia,” Hagen said. “Too often it has been lumped under the larger umbrella of movement disorders and not given the individual attention required to find answers for the patients that the National Ataxia Foundation represents.”

Mugford said he doesn’t want people to feel sorry for him, but he hopes the community will be more aware of the problems he faces.

“The way I look at it, we all have problems. Some people are paralyzed. Some people are dying. I’m not dying. I’m just sick of everyone assuming everything about me.”

Ataxia Q&A

Q: What is spinoce-rebellar ataxia type 2?

A: Spinocerebellar ataxia type 2 (SCA2) is one type of ataxia among a group of inherited diseases of the central nervous system. In SCA2, genetic defects lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain).

Q: What are the symptoms of SCA2?

A: They are:

  • Lack of coordination and balance.
  • Loss of feeling and reflexes.
  • Slow eye movements.
  • Muscle cramps and tremors.
  • Difficulty swallowing.
  • Weakness or memory troubles.

Q: What is the prognosis for SCA2?

A: The onset of symptoms in SCA2 typically occurs when a person is in his or her 30s. In most cases, the duration of symptoms is from 10 to 15 years. However, when the onset of symptoms occurs before the age of 20, the disease tends to progress much more rapidly.

Q: How is SCA2 acquired?

A: SCA2 is a genetic disorder, which means that it is an inherited disease. The abnormal gene responsible for this disease is passed along from generation to generation by family members who carry it. Genetic diseases like SCA2 occur when one of the body’s 25,000 genes does not work properly.

SCA2 is an autosomal dominant disease, which means that individuals of either sex are equally likely to inherit the gene and develop the disease, and that it passes directly from one generation to the next without skipping generations. Each child of a person with SCA2 has a 50 percent chance of inheriting the SCA2 gene.

Q: How common is SCA2?

A: SCA2 is about twice as common as SCA1, which appears in approximately 1 to 2 people in 100,000. (The ratio varies based on geographical location and ethnic background.) Overall it accounts for about 13 percent of the autosomal dominant cerebellar ataxias.

Contact Chelsea Miller at 329-7123 or cmiller@chroniclet.com.